ArticleNature medicine2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
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In one paragraph
Article in Nature medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Article
Corrections and comments
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Authors and funding
114 authors.
Steven Laurie *Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Wouter Steyaert *Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Elke de Boer *Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Kiran Polavarapu *Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.ORCID http://orcid.org/0000-0002-8879-6001
Nika Schuermans *Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.
Anna K Sommer *Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0001-6850-9290
German DemidovInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Kornelia EllwangerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0003-4845-5795
Ida ParamonovCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Coline ThomasEuropean Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.
Stefan AretzInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Jonathan BaetsTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Elisa BenettiMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.ORCID http://orcid.org/0000-0002-0819-604X
Gemma BullichCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID http://orcid.org/0000-0002-0737-4422
Patrick F ChinneryDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Jill Clayton-SmithDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Enzo CohenCentre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.
Daniel DanisJackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID http://orcid.org/0000-0003-0900-3411
Jean-Madeleine de Sainte AgatheDepartment of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.ORCID http://orcid.org/0000-0002-7753-8226
Anne-Sophie Denommé-PichonUniversity of Burgundy, Dijon, France.ORCID http://orcid.org/0000-0002-8986-8222
Jordi Diaz-ManeraJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0003-2941-7988
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0003-4900-9877
Laurence FaivreUniversity of Burgundy, Dijon, France.
Marcos Fernandez-CallejoCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Mallory FreebergEuropean Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.ORCID http://orcid.org/0000-0003-2949-3921
José Garcia-PelaezInstituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Lena Guillot-NoelInstitut du Cerveau, Sorbonne University, Paris, France.ORCID http://orcid.org/0000-0002-0287-3361
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0001-6033-4836
Mike HannaMRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.
Holger HengelDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-9773-2667
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-9841-170X
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
Adam JacksonDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Lennart JohanssonDepartment of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0002-4914-3737
Mridul JohariFolkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Melanie KellnerDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Didier LacombeMRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.
Hanns LochmüllerCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID http://orcid.org/0000-0003-2324-8001
Estrella López-MartínInstitute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.ORCID http://orcid.org/0000-0003-3212-1424
Alfons MacayaPediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
Anna Marcé-GrauPediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0001-5762-4023
Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Heba MorsyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Francesco MuntoniDubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.ORCID http://orcid.org/0000-0002-9102-5232
Francesco MusacchiaDipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
Isabelle NelsonCentre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.
Vincenzo NigroDipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
Catarina OlimpioDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-0112-5767
Carla OliveiraIPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0001-8340-2264
Jaroslava Paulasová SchwabováCentre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Martje G PaulyInstitute of Systems Motor Science, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0002-7794-0282
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Sophia PetersInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Giulio PilusoDipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.ORCID http://orcid.org/0000-0001-9418-125X
Davide PisciaCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Manuel PosadaInstitute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.
Selina ReichDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Alessandra RenieriMed Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.ORCID http://orcid.org/0000-0002-0846-9220
Lukas RybaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Karolis ŠablauskasDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Marco SavareseFolkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.
Ludger SchölsDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Leon SchützInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Verena Steinke-LangeMedizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.
Giovanni StevaninInstitut du Cerveau, Sorbonne University, Paris, France.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0001-9046-3540
Marc SturmInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-6552-8362
Morris A SwertzDepartment of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.ORCID http://orcid.org/0000-0001-7736-9672
Iris B A W Te PaskeDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Rachel ThompsonChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Annalaura TorellaDipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.
Christina TrainorJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Bjarne UddFolkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.
Liedewei Van de VondelTranslational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Bart van de WarrenburgDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Jeroen van ReeuwijkDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-0658-4399
Jana VandrovcovaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Antonio VitobelloUniversity of Burgundy, Dijon, France.
Janet VosDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Emílie VyhnálkováDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Robin WijngaardDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Carlo WilkeDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Doreen WilliamInstitute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.ORCID http://orcid.org/0000-0001-7824-5073
Jishu XuInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Burcu YaldizDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Luca ZalatnaiCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Birte ZurekInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Solve-RD DITF-GENTURIS
Solve-RD DITF-ITHACA
Solve-RD DITF-EURO-NMD
Solve-RD DITF-RND
Solve-RD consortium
Anthony J BrookesDepartment of Genetics and Genome Biology, University of Leicester, Leicester, UK.ORCID http://orcid.org/0000-0001-8686-0017
Teresinha EvangelistaCentre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.ORCID http://orcid.org/0000-0002-1329-9131
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0003-1693-9699
Holm GraessnerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Nicoline HoogerbruggeDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-7416-9568
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Rebecca SchüleDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Matthis SynofzikDepartment of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-2280-7273
Alain VerloesDept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.ORCID http://orcid.org/0000-0003-4819-0264
Leslie MatalongaCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0002-5121-1460
Richarda M de VoerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Ana TöpfJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Lisenka E L M VissersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Sergi BeltranCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain. sergi.beltran@cnag.eu.ORCID http://orcid.org/0000-0002-2810-3445
Alexander HoischenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.ORCID http://orcid.org/0000-0002-8072-4476
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